lissencephaly due to TUBA1A mutation
ORPHA: 171680
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with lissencephaly due to TUBA1A mutation, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMicroretrognathiaStrabismusHypotoniaSpasticityAgenesis of corpus callosumCerebellar vermis hypoplasiaLissencephalyBilateral tonic-clonic seizureHypoplasia of the corpus callosumDilated fourth ventricleHypoplasia of the brainstemDysgenesis of the hippocampusHypoplastic anterior limbs of the internal capsuleOptic nerve hypoplasiaNystagmusPachygyriaPartial agenesis of the corpus callosumPolymicrogyriaDysplastic corpus callosumFocal-onset seizureInfantile spasmsPerisylvian polymicrogyriaHypoplastic hippocampusAgyriaAganglionic megacolonGlobal developmental delayVentriculomegalyDysgenesis of the basal ganglia
Classification & Codes
Orphanet Code
ORPHA:171680lissencephaly due to TUBA1A mutation
| Orphanet | ORPHA:171680 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO